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NM_000054.7(AVPR2):c.113G>A (p.Arg38Gln) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 18, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002961467.2

Allele description [Variation Report for NM_000054.7(AVPR2):c.113G>A (p.Arg38Gln)]

NM_000054.7(AVPR2):c.113G>A (p.Arg38Gln)

Gene:
AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000054.7(AVPR2):c.113G>A (p.Arg38Gln)
HGVS:
  • NC_000023.11:g.153905619G>A
  • NG_008687.1:g.5646G>A
  • NG_013220.1:g.25642C>T
  • NG_013220.2:g.25645C>T
  • NM_000054.7:c.113G>AMANE SELECT
  • NM_001146151.3:c.113G>A
  • NP_000045.1:p.Arg38Gln
  • NP_001139623.1:p.Arg38Gln
  • LRG_716t1:c.113G>A
  • LRG_716:g.5646G>A
  • LRG_716p1:p.Arg38Gln
  • NC_000023.10:g.153171073G>A
  • NM_000054.4:c.113G>A
Protein change:
R38Q
Molecular consequence:
  • NM_000054.7:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146151.3:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003686462Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 18, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003686462.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024